Rare, But Not Alone

by Andrea Wszelaki

All my life, my family and I have known there was something different about my body. I battled chronic infection after chronic infection and suffered from pain and limited mobility. Doctors lacked answers. Sadly, many of them also lacked the motivation to look for them.

As I grew sicker and more physically disabled with age, my parents devoted themselves to conducting the much needed research for my yet-unknown mystery conditions and tirelessly took me to medical appointments. It wasn’t until I was 24 that I received my first major diagnosis of a rare condition. I have Klippel-Feil Syndrome, a congenital cervical spinal deformity which also effected my kidneys and other organs.

In the years following, I was subsequently diagnosed with Common Variable Immunodeficency for which I now must receive regular infusion therapy, and a movement disorder called Segmental Spinal Myoclunus which causes painful and debilitating muscle spasms.

Upon learning these diagnoses, I’ve come to realize that it did not directly improve my life…nor did it make it worse. However, it empowered me to find the answers and make the changes that ultimately improved my quality of life. On the emotional spectrum, a diagnosis gave me validation that I wasn’t crazy: the things I’ve felt all the years were real and beyond my control.

Moreover, the unknown monsters I battled now had names. Names to my diseases meant that I was not alone in my struggle. Rare I may be, but alone I am not! Physically, I could learn about what was actually happening to my body. I finally understood the origins of my pain, had a long-term forecast of how the diseases would progress, and had options in combating my infections and other symptoms. Treatments and answers that once were only hopes and dreams now were my reality- although they were limited.

A diagnosis was information, and information was empowerment. I wanted everyone else living with a rare or yet-unknown condition to also be empowered. Therefore, my mother and I, along with two other cofounders we met through support groups, set into motion a plan to establish a non-profit organization dedicated to research and advocacy for people effected by Klippel-Feil Syndrome. Known as the Klippel-Feil Syndrome Alliance, our organization has a network of patients across the globe. All of us at one time, never imagined being able to talk to another person who completely understood the complexities of health and life with KFS – until now.

Today, I’ve come so far. I am doing things I never thought would be possible. I used to worry about being able to graduate from school because I was too ill, or if I could make it to a family gathering because I couldn’t stand the pain. At one time, I couldn’t write me own name or wash my own hair. I feared having to live another year because of how tired my body was, and now I’m excited about my future! I recently married my best friend, and we are expecting our first child in December.

My life still has many unknown factors. I must learn answers along the way because research into my conditions is still so limited. For example, I am now a case study with several of my specialists because they’ve never treated a patient with my diseases who is also pregnant. But I’m used to the unknown, and eager to learn and enable others to learn as well. I cannot change what I have or control my health and future. However, I am optimistic. Moreover, I hope that one day rare does not equate to struggle or lack of answers and options. With the help of organizations like yours and patients like us; future rare disease patients will have more answers and real hope!

Filed Under: Insights, Patient Stories

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Global Genes Comments

  1. After reading all of your stories gives me a the glimpse of hope i need. I am very depressed due to my circumstances related to kfs.

  2. Rebecca Holzapfel says:

    I am a 50 year old, divorced mother of 3. Like others on this site, I was never given a diagnosis of KFS. Most of the time, I have to explain it to them. I saw it in a book in nursing school. I am trying to find out what I can about it. I also have Chiari Malformation type 2, so I have been told surgery is not an option. I have led a normal life but it upsets me to think that I may have passed it to my kids and grandkids. I would like to find a support group or at least someone who understands to commiserate with

  3. Donna Wilkinson says:

    My daughter who is 39 has KFS although we knew she had it when she was about 16 we didn’t understand the real problems it could cause. After taking her to 3 different Drs. at Nemours and Mayo both in Jacksonville Fl they only seemed concerned about her congenital scoliosis. The last Dr. I took her to was an orthopedic Dr. with JOI he said that there was nothing they could do and that she would probably have problems with pinched nerves in her late twenties still not really understanding the problems she would really have in her middle thirties when she really started having her worst problems she’s had kidney stones a operation on her neck to remove a shivered bone that was poking in her spinal cord like a needle and now she has a problem with spinal fluid building up in her head that she has to have drained ever so often she takes medication for that but it makes her sick on her stomach it’s a long road but she manages a good disposition most of the time sometimes I’m glad that we didn’t know the extinct of the problems she would face she played sports in school, water skied, held down a job from 16 till about 34and was as rough and tough as anyone around she also gave me one of the most precious gifts that of a granddaughter 20 years ago she lived more life in those first thirty something years than most people do their entire life I LOVE YOU CHRISTY C. with all my heart and am so proud of you

  4. Hello, I live in Colorado, I just found out I have KFS, suffer from migraines since 2012 and chronic pain on different parts of the body.I am trying to find out a Dr. specialized on KFS as well, because even my neurosurgeon that applies the trigger point injections on my neck for my headaches and neck pain, she didn’t mention anything after my neck mri, I was the one reviewed the 2 neck mri, one from 2012, and one from 2016 and on both said that I have ddd, dissecation of the disk and KFS, she said it’s no big deal, that is not what is causing me pain and headaches.

  5. I’m 34, two daughters, survivor of breast cancer and have congenital cervical fusion, severe scoliosis, spinal stenosis and some other things I’m not well versed in to even attempt just yet! I have not been diagnosed with KFS… By a doctor… Yet. I’m guessing because not a lot of doctors know about it in my area (Savannah, GA area). I was seriously beginning to think that I might just be crazy and my back really wasn’t as bad as I was thinking, feeling, seeing! I was in 5th grade when I finally complained enough to get my parents to take me to a back specialist (they thought they would get me to stop complaining) but lo and behold, even the doctor was shocked at the x-rays, I’m not even sure that he noticed the fusion at the time. He wasn’t sure what to tell us to do so he just said to keep up as regular a lifestyle as possible, exercise, stay active but just be careful, the older I got, the worse it would get. Heading pads, ice, ibuprofen should do the trick.
    Well, that forward about 20 yrs and I’m still in the same boat I was in then….. All the doctors I’ve seen still at a loss.
    I worked for a chiropractor about 12 yrs ago and he wanted to adjust my neck to see if that would help with the migraines and burning in my neck…. I’m so glad I had the good sense to tell him not until we did x-rays. He didn’t believe me when I told him about my back, he literally said “there’s no way your back is as bad you say and your standing here in front of me, I can tell it isn’t that bad!” After I developed the films and handed them to him his mouth dropped and told me about the fusion. If he had adjusted my neck Without those films, I might be paralyzed now… Or worse.
    I’m sorry, this has gotten to be a bit lengthy, I’m ecstatic to finally have found something that I truly believe is the answer. As you said above, it doesn’t change anything but it does give me knowledge to move forward and that’s more than I’ve had to go on my entire life.
    Thank you so much for being such a great advocate for this rare disease.
    P.S. Guilty pleasure #84: I do like when I get x-rays taken… Especially after an accident/fall, just to see the young technicians faces when they come back to move reposition me, thinking my back is messed up from the incident. I tell them in the end I was born that way, but I do so love a good ribbing now and then.
    After all, Laughter is the best medicine!!!!!😆

  6. I am 42 and have only just found out I have this . I’m totally confused by it all and do not know of an English doctor that knows about it .
    It’s through having an accident and a private doctor suggesting in his opinion I have this .
    I’m in chronic pain daily with my neck mainly but I do not know if this is classed as a disability in the UK .
    I want to be fully checked over for this and to know what to protect ie: my neck .
    Can anyone advise x

  7. Hello everyone. Thank you for your responses to my story. I’d also like to apologize that I didn’t respond sooner. However, it actually wasn’t until this evening that I even realized there was a comment section! I had never really read my link until now.

    If you’d like to get more involved,
    learn more about KFS, or find more resources for specialists, please join the Klippel-Feil Syndrome Alliance Facebook page or find us at https://kfsalliance.org. We have a wonderful and supportive community!

    Andy- that’s very interesting about your hands. I too have involuntary mirror movements in my hands. Congratulations on your family. I too like to think that I live a relatively normal life and consider myself very lucky. It could be much worse.

    Gina and Michelle- please visit our website and email one of us there with more information about where you are. It’s difficult to find doctors familiar with KFS. But we’d certainly try to get you connected with a good neurosurgeon who could help you design a great holistic, long-term care plan.

    Megan- I, and several of our communities members, can truly relate to elements of your story: late diagnosis, poor care and misunderstandings. I have SBO and needed a c-section as well. But it all worked out. The CEO of the KFSA- and my mom :)- is also a specialist in spina bifida. We have a great knowledge base.

    Hi Emily 🙂 You are wonderful, and great things are happening for you right now. It’s a complicated and nerve wrecking journey planning a family while living with complex health issues, but you can do it. It’s ever so rewarding. Good luck.

  8. Gina Santos says:

    I learned I had a congenital fusion of my cervical spine at 30, incidental finding. But never given a DX of KFS till after multiple falls led to surgery. I’ve suffered with pain for so long. I still cannot find a doctor who understands KFS. I’ve had an emergency cervical fusion, and a spinal cord injury as a result. I desperately need help locating a doctor. I live only 1 1/2 hrs from johns hopkins, and DC. I’m lost and alone in my chronic pain. Doctors aren’t helping me.. please help. Anyone…

  9. Megan Quinn says:

    As a child I was born with Spina Bifida and wore a urostomy bag until age 22 when I had a surgery that made a bladder out of my colon and it is internal and I catheterize. I always had headaches in high school and eventually developed scoliosis. I am now 50 years old and was diagnosed 3 years ago with KFS c1 and c2 fused. I graduated college, became an operating room nurse gave birth to a son (it never occurred to me I couldn’t). My kidneys are not perfect but I thought that was from the Spina Bifida. My mother never took me to Dr’s. She just never did. I was on a swim team and lead a life like everyone else. I feel blessed that I didn’t know about my diagnosis until I was 47 because it may have changed the way I lived my life. I had a C-Section and they cut through my bladder to get him out and then put me back together. Over the last 10 years I started to have terrible back pain. So bad my son had to help me out of the car after work. I took pain killers and went on. I thought it was all from my scoliosis and spinal stenosis. Then I started to get clumsy and fall. I insisted on an MRI of my cervical spine. I had KFS. My Dr said I needed surgery immediately or I could become paralyzed from the neck down. I waited a year, I did not want that surgeon. He was good but not good enough for this ( I have been lucky enough to see all of my personal surgeons work in the OR). Then I met a surgeon who I worked for a Dr Jonathan Lewin of Englewood NJ. He corrected 2 huge bulges in my cervical spine. I watched him work as an OR nurse and he was the only one I wanted. I don’t have pain anymore!! no lower back pain, nothing. It is like a miracle. I also needed a hip replacement because of arthritis in my family. I have to stretch and exercise get messages as well as occasionally see an orthopedist to check on my scoliosis. Apparently my diagnosis wasn’t as bad as many. One shoulder is definitely higher and my left scapula is more prominent. My mother has been dead for almost 20 years. I sometimes would get mad that she never brought me to the DR when I was young but she just acted like there was nothing wrong. I don’t know if that was good or bad but I grew up knowing something was wrong but was never treated differently because I believe I didn’t think anything was that wrong. Except the Urostomy bag which never prevented me from having boyfriends and they never cared. They were really good looking too. I myself was astonished. I guess I’m saying… Don’t let KFS define you. It’s just a small part of who you are. Live your life. Don’t think too much. If I start reading about it I start to panic so I don’t. Whatever will happen will. That is how I choose to live my life. I would be happy to talk to anyone dealing with this especially if you want to have a baby. Your friend, Megan.

    • Hi I just read your story! I’m 40 with 4 children I was diagnosed with scoliosis in the fifth grade but wasn’t diagnosed with KFS until last year. The older I get the worse it gets. I don’t know what to do or who to go to
      For help. I need a Dr that actually knows something about KFS and that could possibly do something,anything, to make my constant pain a little more bearable. I’m so glad to know that im not alone and crazy lol any help or advice you could give will be greatly appreciated and I would really like to keep in touch. God bless

  10. Hi Andrea, I was just doing as I always do and came upon your story. I just recently within the past few months came to realize I too was born with the defect, but also along with it I was also born with Spina bifida. I really don’t know much else because I did not really know anything beyond what was told to me by my mother. The only thing that was told to me is that I was born with a fluid sac at the base of my skull, but beyond that I knew very little. From what I have read in the last several months I consider myself very fortunate. I live a pretty normal life. I am married with 1 grown daughter. We live in mesa AZ.. The only real issue I have is that both my hands seem to work together, but I have learned to compensate for that. I am wanting to get involved with folks like yourself and others who have the same issues. That’s for sharing your story ………….Andy

  11. Beautiful story! I have KFS and want to have a family; this gives me hope!

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